So wo ba ketewa no reyɛ kɔkɔɔ? So ebetumi aba sɛ ɛyɛ Crigler-Najjar Syndrome? Momma yɛnka ho asɛm!

Yenim sɛ ɛyɛ ade a ɛfata sɛ nkokoaa a wɔawo wɔn foforo honam ani yɛ kɔkɔɔ kakra, anaasɛ jaundice. Mpɛn pii no, eyi bɛbrɛ ase wɔ nna kakraa bi mu. Nanso, ɛtɔ mmere bi a, saa kɔkɔɔ yi betumi ayɛ kɛse asen sɛnea ɛte daa na ɛtra hɔ kyɛ. Ɛno ne bere a ɛsɛ sɛ yɛdwen ho kakra. Efisɛ, eyi betumi afi Crigler-Najjar Syndrome, awosu mu tebea a ɛntaa nsi nanso ebetumi ayɛ aniberesɛm. Enti, momma yɛnka eyi ho asɛm nkɔ akyiri kakra nnɛ.

Dɛn ne Crigler-Najjar Yare no?

Sɛ yɛbɛka no tiawa a, Crigler-Najjar Syndrome yɛ awosu mu tebea a ɛntaa nsi a ɛba bere a awuduru bi a wɔfrɛ no `(Bilirubin)` pii wɔ yɛn mogya mu no. Afei ebia woresusuw nea ɛyɛ `(Bilirubin)` yi ho, ɛnte saa?

Susuw ho hwɛ, mogya mu nkwammoaa kɔkɔɔ a ɛwɔ yɛn nipadua mu no wɔ nkwa nna pɔtee bi. Sɛ saa nkwa nna no ba awiei a, wowuwu. Wɔfrɛ saa aduru kɔkɔɔ yi a ɛba bere a mogya mu nkwammoaa kɔkɔɔ no asɛe no `(Bilirubin).` Mpɛn pii no, eyi si wɔ obi a ɔwɔ apɔwmuden nipadua mu: Yɛn mmerɛbo no fa saa `(Bilirubin)` yi, yi ne su a awuduru wom no fi hɔ, na ɛdan no biribi a ɛnyɛ awuduru. Afei wɔde nsuo yi fi nipadua no mu.

Nanso, obi a ɔwɔ Crigler-Najjar yare no mmerɛbo ntumi nsɛe bilirubin yi yiye. Afei, bilirubin a awuduru wom no fi ase boaboa ano wɔ mogya no mu. Eyi yɛ tebea a emu yɛ den a sɛ wɔansa no yiye a, ebetumi de ne nkwa ato asiane mu.

So Crigler-Najjar yare ahorow bi wɔ hɔ?

Yiw, Crigler-Najjar Syndrome ahorow atitiriw abien na ɛwɔ hɔ:

• Ɔkwan a Ɛto so 1 (CN1): Eyi ne ɔkwan a emu yɛ den sen biara na ɛde nkwa to asiane mu. Mmofra pii a wɔwɔ saa tebea yi yɛ den sɛ wobenya nkwa esiane yare no mu nsɛnnennen, titiriw amemene a asɛe nti. Ayaresa a wɔyɛ no ntɛm na emu yɛ den ho hia.
• Type 2 (CN2): Eyi yɛ tebea a emu nyɛ den kakra sen type 1. Mmofra a wɔwɔ saa type yi nnya yare no ho sɛnkyerɛnne a emu yɛ den pii efisɛ mmerɛbo no tumi yɛ bilirubin ho adwuma kodu baabi. Enti, wobetumi atra ase sɛnea ɛsɛ.

Henanom na saa tebea yi ka wɔn? Ɛtaa ba dɛn?

Crigler-Najjar Syndrome yɛ awosu mu yare a ebetumi aka obiara. Ɛnam mutation a ɛba wɔ gene bi a wɔfrɛ no `(UGT1A1)` mu. Fa no sɛ, sɛ awofo baanu no nyinaa yɛ awosu mu abɔde a ɛtɔ sin yi kurafo, na abofra no nya awosu mu abɔde no bi a asɛe fi wɔn baanu nyinaa hɔ a, saa tebea yi (kyerɛ sɛ, `(Autosomal Recessive)`) ba. Sɛ saa awosu mu abɔde a ɛtɔ sin yi fi ɛna no nkutoo mu anaasɛ agya no nkutoo mu a, ebetumi ayɛ tebea a emu nyɛ den pii, te sɛ `(Gilbert's Syndrome)`, ne tebea foforo a ɛfa `(Bilirubin)` ho.

Crigler-Najjar Syndrome ka mmofra a wɔawo wɔn foforo bɛyɛ ɔpepem biako biara mu biako wɔ wiase nyinaa. Ɛno kyerɛ sɛ ɛyɛ yareɛ a ɛntaa nsi koraa.

Ɔkwan bɛn so na eyi ka abofra no nipadua?

Sɛ wo ba ketewa no wɔ saa tebea yi a, wɔn honam ani ne n’ani fitaa bɛyɛ kɔkɔɔ. Wɔfrɛ eyi jaundice. Eyi ba efisɛ mmerɛbo no ntumi nyɛ bilirubin ho adwuma yiye, na ɛma bilirubin boaboa ano wɔ mogya no mu. Ɛwom sɛ jaundice abu so wɔ mmofra a wɔawo wɔn foforo mu de, nanso nkokoaa a wɔwɔ Crigler-Najjar syndrome no betumi anya jaundice bere tenten, ebia wɔ wɔn nkwa nna nyinaa mu.

Eyi betumi de nkwa ato asiane mu. Efisɛ sɛ wo ba no nipadua nya bilirubin pii a, ebetumi atu kwan akɔ amemene no mu na ama amemene no asɛe a wontumi nsakra. Wɔfrɛ eyi Kernicterus. Enti, nnuruyɛfo bɛyɛ ayaresa nhyehyɛe bi ma ɛne wo ba no yare no ho sɛnkyerɛnne ahyia na wɔasiw nea efi mu ba a asiane wom yi ano.

Dɛn ne Crigler-Najjar yare no ho sɛnkyerɛnne?

Sɛnea sɛnkyerɛnne ahorow no mu yɛ den no gu ahorow gyina ɔkwan a wɔfa so yɛ no so (Type 1 anaa Type 2). Type 1 ne nea emu yɛ den sen biara.

Sɛ akokoaa a wɔawo no foforo nya saa tebea yi a, wɔn honam ani ne n’ani fitaa bɛyɛ kɔkɔɔ, na wɔfrɛ no jaundice. Jaundice abu so wɔ mmofra a wɔawo wɔn foforo mu efisɛ wɔn mmerɛbo nnyinii koraa. Mpɛn pii no, eyi yɛ yiye wɔ asetra mu dapɛn biako anaa abien a edi kan no mu. Nanso, wɔ nkokoaa a wɔwɔ Crigler-Najjar yare no mu no, saa jaundice yi kɔ so wɔ awo akyi.

Dɛn ne Kernicterus?

Sɛ bilirubin boaboa ano dodo wɔ abofra amemene, ntini, ne ntini mu a, mmofra a wɔwɔ Crigler-Najjar yare no nya tebea bi a wɔfrɛ no kernicterus. Kernicterus yɛ yare a ɛde ne nkwa to asiane mu a ɛsɛe amemene no. Saa sɛnkyerɛnne ahorow yi taa ba ɔsram biako anaa nea ɛte saa akyi, anaa mmofraase. Ɛtɔ da bi a, saa sɛnkyerɛnne ahorow yi betumi ada adi akyiri yi wɔ asetra mu, sɛ wogyae Crigler-Najjar syndrome ayaresa, anaasɛ bilirubin dodow kɔ soro mpofirim esiane yare foforo (atiridiinini, ɔyare mmoawa), anaasɛ sɛ akokoaa no mmerɛbo sɛe a.

Kernicterus ho sɛnkyerɛnne a emu nyɛ den betumi ayɛ:

• Clumsiness a wɔyɛ
• Ntini a ɛyɛ mmerɛw
• Nkate (nkate, hu, aso) haw ahorow
• Ɛyɛ den sɛ wobɛyɛ nnwuma pa (sɛ nhwɛso no, sɛ wobɛkura biribi, wobɛbɔ nneɛma, ne nea ɛkeka ho) .
• Kankyee a wontumi nni so te sɛ nipadua no a ɛkyinkyin na ɛtwetwe bere nyinaa (Choreoathetosis) .
• Tooth enamel a ɛnkɔ so yiye

Kernicterus ho sɛnkyerɛnne a emu yɛ den betumi ayɛ:

• Aso a ɛyɛ den anaa asotiw
• Ɔbrɛ a ɛboro so, nna a obi da bere nyinaa (Lethargic) .
• Adidi ne mene a ɛyɛ den
• Huraeɛ
• Akisikuru anaa ɔfe
• Ɛtɔ mmere bi a, ntini no mpofirimMmerewa (Hypotonia) ne/anaasɛ ɛtɔ mmere bi a ntini a ɛyɛ den (Hypertonia) .
• Adwene mu nkɔso ho nsɛm

Dɛn nti na ɛte saa?

Sɛnea yɛadi kan aka no, ade titiriw nti a eyi ba ne nkwaadɔm mu nsakrae a ɛba awosu mu abɔde a wɔfrɛ no `(UGT1A1)` mu. Saa `(UGT1A1)` awosu mu abɔde yi kyerɛ mmerɛbo no sɛ ɛnyɛ enzyme bi a wɔfrɛ no glucuronyl transferase. Saa enzyme yi ho hia paa ɛfiri sɛ ɛboa ma ɛdane `(Bilirubin)` firi "unconjugated" kɔ "conjugated" na yi fi nipadua no mu.

Susuw ho sɛ eyi: Bilirubin yɛ ade a wɔde gu nwura a ɛyɛ kɔkɔɔ. Mmɛn no te sɛ adwumayɛbea. Wɔ adwumayɛbea yi mu no, adwumayɛfo bi wɔ hɔ a wɔfrɛ wɔn enzymes a UGT1A1 awosu mu abɔde no na ɛyɛ. Wɔn adwuma ne sɛ wɔbɛfa bilirubin "bɔne" yi na wɔadan no bilirubin "pa" a ɛyɛ nsuo a ɛtumi nwura mu na ɛnyɛ den sɛ wɔbɛyi afiri nipadua no mu. Afei ɛne bile bom, fa dwensɔtwaa no mu, na ɛkɔ nsu mu.

Nanso, sɛ wowɔ mutation wɔ `(UGT1A1)` gene no mu a, saa "adwumayɛfo" (enzymes) no nnyɛ yiye, anaasɛ wontumi nyɛ adwuma yiye. Afei saa "bɔne", awuduru `(Bilirubin)` no boaboa ano wɔ mogya ne ntini ahorow no mu. Sɛ biribi a ɛte sɛ awuduru boaboa ano wɔ mogya no mu a, sɛ wɔansa no yiye a, sɛnkyerɛnne ahorow a ɛde nkwa to asiane mu betumi aba.

Wobɛyɛ dɛn ahu eyi?

Sɛ wo ba no wɔ jaundice, a ɛkyerɛ sɛ bilirubin dodow dɔɔso sen sɛnea wɔhwɛ kwan wɔ abofra a wɔawo no foforo mu, anaasɛ jaundice no mu yɛ den ntɛmntɛm wɔ nna anaa adapɛn kakraa a edi kan wɔ awo akyi a, ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn ntɛm ara. Wɔ nipadua mu nhwehwɛmu akyi no, oduruyɛfo no bɛyɛ nhwehwɛmu afoforo pii de ahu nea enti a aniwa no were ne fitaa yɛ kɔkɔɔ ankasa. Nhwehwɛmu ahorow a wɔde hu Crigler-Najjar Syndrome ne:

• Awosu mu nhwehwɛmu: Eyi boa ma wohu nkwaadɔm mu nsakrae a ɛwɔ awosu mu nkwaadɔm (UGT1A1) a ɛde sɛnkyerɛnne ahorow no reba no mu.
• Mogya mu Bilirubin Dodow Sɔhwɛ: Eyi kyerɛ bilirubin dodow a ɛwɔ mogya no mu nyinaa, ne bilirubin "bɔne" (bilirubin a wɔmfa nka ho) nso.
• Mmɛn dwumadi ho nhwehwɛmu: Hwɛ sɛnea mmerɛbo no reyɛ adwuma yiye .
• Ebia ɛho behia nso sɛ wofa mmerɛbo no fã ketewaa bi (liver biopsy) na wohwehwɛ mu hwɛ sɛnea enzyme no yɛ adwuma.

Oduruyɛfo no nso bebisa wo sɛ ebia obi wɔ w’abusua mu anya awosu mu tebea horow yi anaa, na ama woanya adwene wɔ sɛnea wɔahu no ho ansa na wayɛ nhwehwɛmu ahorow no.

Dɛn ne ayaresa ahorow a wɔde sa eyi?

Botae titiriw a ɛwɔ Crigler-Najjar Syndrome ayaresa mu ne sɛ ɛbɛtew bilirubin dodow a ɛwɔ nipadua no mu so na asiw kernicterus ano. Ebia ayaresa ahorow yi bi ne:

• Mfoninitwa: Eyi ne noAyaresa titiriw ne nea wɔtaa de di dwuma kɛse. Eyi hwehwɛ sɛ wɔde akanea bruu soronko di dwuma de yi `(Bilirubin)` fa honam ani. Fa no sɛ, saa akanea yi sesa `(Bilirubin)` molecule ahorow no nsusuwii, na ɛma ɛyɛ nea ɛtumi nwura nsuo mu, ne bile ka ho, na ɛyi fi nipadua no mu. Wɔ saa ayaresa yi mu no, wɔde kataso a ɛbɔ akokoaa no ho ban gu akokoaa no ani so na wɔde honam ani fã kɛse biara a wobetumi de hann no hyɛ mu. Ɛsɛ sɛ wɔyɛ eyi nnɔnhwerew pii da biara, ebia wɔn nkwa nna nyinaa.
• Mmɛn a wɔde si ananmu: Eyi nkutoo ne aduru a ɛtra hɔ daa ma CN1. Eyi hwehwɛ sɛ wɔyɛ oprehyɛn yi mmerɛbo a yare no na wɔde mmerɛbo a ɛte apɔw (anaa mmerɛbo no fã bi) si ananmu. Mmɛn foforo no tumi yɛ bilirubin ho adwuma yiye, na ɛboa ma bilirubin dodow san kɔ sɛnea na ɛte kan no. Wɔtaa yɛ eyi ntɛm wɔ nkwa nna mu na ama amemene no ansɛe.
• Phenobarbital: Ɛtɔ mmere bi a wɔde saa aduru yi di dwuma ma CN2. Ebetumi ama mmerɛbo mu enzyme ahorow a ɛyɛ bilirubin ho adwuma no dwumadi akɔ soro kakra. Nanso, ɛnyɛ adwuma mma CN1.
• Plasmapheresis anaa Exchange Transfusion: Wɔde akwan yi di dwuma de yi bilirubin fi mogya no mu ntɛm sɛ bilirubin dodow no kɔ soro dodo mpofirim, na ɛde asiane ba sɛ amemene no bɛsɛe.
• Siw atiridii ne ɔyare mmoawa ano: Atiridii ne ɔyare mmoawa betumi ama bilirubin dodow akɔ soro, enti ɛho hia sɛ wudi so ntɛm.

So ayaresa no mu nsunsuanso bɔne bi wɔ hɔ?

Mpɛn pii no, phototherapy yɛ ayaresa a ahobammɔ wom. Nanso, ɛtɔ mmere bi a ebetumi ama honam ani ayɛ kusuu na akisikuru. Afei nso, ɛsɛ sɛ wohwɛ yiye wɔ nsu a ɛwɔ wo ba no mu no ho.

Sɛ wode ``LED`` akanea bruu foforo di dwuma a, ɛnyɛ den sɛ ɛbɛsɛe honam ani sen kanea dedaw a ɛyɛ fluorescent.

Bere a yɛrenyin na yɛrenyin no, honam ani yɛ den, na ebetumi atew tumi a `(Phototherapy)` hann no tumi du `(Bilirubin)` molecule ahorow no ho no so. Eyi betumi atew ayaresa no nkonimdi so, na ebia ebehia sɛ wususuw mmerɛbo foforo a wode bɛma ho.

Nneɛma a ɛsɛ sɛ wususuw ho bere a worehwɛ abofra no

Abofra a ɔwɔ Crigler-Najjar Syndrome a wɔbɛhwɛ no betumi ayɛ asɛnnennen.

• (Phototherapy)` Ɛho hia paa sɛ wobɛyɛ ayaresa no sɛnea oduruyɛfo no ka no pɛpɛɛpɛ, wɔ bere a ɛfata mu. Mpɛn pii no, wobetumi ayɛ eyi mu nsakrae ma wɔayɛ wɔ fie.
• Bere a akokoaa no wɔ kanea no ase no, kyekye ne werɛ, ne no nkasa, na fa wo nsa ka no.
• Nsu a ɛfata a wɔde bɛma no ho hia.
• Hwɛ wo ba no honam ani kɔla, ne nneyɛe, ne sɛnea odidi so bere nyinaa. Sɛ wuhu nsakrae bi a, ka kyerɛ wo duruyɛfo ntɛm ara.
• Sɛ wunya yare no ho sɛnkyerɛnne te sɛ atiridiinini, ɔfe, anaa akisikuru a, kɔ wo duruyɛfo nkyɛn ntɛm ara.Efisɛ nneɛma a ɛte sɛɛ betumi ama bilirubin dodow akɔ soro mpofirim.

So wobetumi asiw eyi ano?

Dabi, wontumi nsiw Crigler-Najjar Syndrome ano efisɛ ɛyɛ awosu mu tebea. However, if you are planning to have a child, if someone in your family has this genetic condition, or if you are concerned about it, talk to your doctor about genetic counseling and genetic testing. Eyi bɛboa wo ma woahu asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ saa tebea yi.

Asetra bɛyɛ dɛn wɔ tebea yi mu? (Nkɔmhyɛ) .

Eyi gyina yare no ko (CN1 anaa CN2) ne sɛnea wɔsa no ntɛmntɛm na edi mu so.

• Mmofra a wɔwɔ type CN2 , sɛ wɔsa wɔn yare yiye a, mpɛn pii no wobetumi ahwɛ kwan sɛ wɔn ho bɛtɔ wɔn yiye na wɔatra ase sɛnea ɛsɛ.
• Mmofra a wɔwɔ CN1 no wɔ asiane kɛse mu sɛ wɔn amemene bɛsɛe esiane kernicterus nti sɛ wɔanhu wɔ wɔn nkwa nna mu asram kakraa a edi kan no mu na wɔde mfonini a emu yɛ den sa wɔn yare na afei wɔde mmerɛbo foforo ma wɔn a. Wɔ tebea horow a ɛtete saa mu no, nkwa nna betumi ayɛ kakraa bi. Nanso, sɛ wɔsa wɔn yare ntɛm na ɛfata, titiriw mmerɛbo foforo a, wobetumi atra ase sɛnea ɛsɛ.

Nnipa pii hia nkwa nna nyinaa ayaresa ne nyarewa ano aduru.

So aduru bi wɔ hɔ a wɔde sa eyi daa?

Yiw, sɛnea yɛadi kan aka no, mmerɛbo a wɔde ma obi foforo betumi asa Crigler-Najjar Syndrome, titiriw CN1 a ɛyɛ soronko no. Esiane sɛ mmerɛbo foforo a ɛwɔ apɔwmuden no tumi yɛ Bilirubin ho adwuma yiye nti, Bilirubin dodow no san kɔ sɛnea na ɛte kan no, na ɛho nhia sɛ wɔde phototherapy di dwuma.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Crigler-Najjar Syndrome betumi de sɛnkyerɛnne ahorow a wontumi nsakra, a ɛde nkwa to asiane mu aba. Enti, sɛ wo ba no jaundice no ankɔ yiye wɔ nna kakraa bi mu anaasɛ ɛte sɛ nea ɛreyɛ kɛse a, kɔ oduruyɛfo nkyɛn ntɛm ara.

Bio nso, sɛ wuhu sɛnkyerɛnne ahorow yi bi a, kɔ oduruyɛfo nkyɛn ntɛm ara:

• Nkɔso a ɛkyɛ wɔ abofra no mu
• Atiridiinini a emu yɛ den
• Jaundice a ɛnkɔ yiye anaasɛ ɛnsɛe wɔ phototherapy akyi
• Adidi a ɛyɛ den, mu duru a ɛso tew
• Sɛ abofra no da bere nyinaa na n’ani nnye ho a
• Nipadua a ɛyɛ soronko anaasɛ ɛtwetwe

Nsɛmmisa a ɛsɛ sɛ wobisa oduruyɛfo no

Sɛ wokɔ oduruyɛfo nkyɛn a, siesie wo ho sɛ wubebisa nsɛm te sɛ eyinom:

• So me ba no wɔ Crigler-Najjar yare a ɛto so 1 anaa 2?
• Bere tenten ahe na me ba hia phototherapy? Nnɔnhwerew ahe na da biara?
• So nsunsuanso bɔne bi wɔ saa ayaresa ahorow yi mu? Dɛn na wobetumi ayɛ wɔ wɔn ho?
• So ɛho behia sɛ wɔma me ba no mmerɛbo foforo? Sɛ saa a, bere bɛn na eye sen biara a ɛsɛ sɛ woyɛ?
• Aniberesɛm bɛn na me ba no yare no yɛ na dɛn na metumi ahwɛ kwan wɔ bere tenten mu?
• So metumi ayɛ phototherapy wɔ fie? Nnwinnade bɛn na ehia?
• Nneɛma bɛn na ɛsɛ sɛ mehwɛ so titiriw bere a merehwɛ me ba no?
• Bere bɛn na ɛsɛ sɛ meba bɛhwɛ me nhwehwɛmu a edi hɔ?

Crigler-Najjar Syndrome a wobehu no betumi ayɛ asɛnnennen ama abofra no ne wɔn a wɔhwɛ wɔn no nyinaa. Ntease wom sɛ wobɛte ehu ne dadwen nka bere a wɔawo wo ba a ne honam ani yɛ kɔkɔɔ ne n’aniwa. Sɛ wote nka sɛ woayɛ basaa, woayɛ basaa, anaasɛ wo ho yeraw wo bere a worehwɛ wo ba a ɔwɔ saa yare yi a, ɛho hia sɛ wo ne adwenemyare ho ɔfotufo bi kasa na wohwɛ wo ho. Sɛ wowɔ apɔwmuden na wo ho yɛ den a, wubetumi aboa wo ba no yiye ma wafa akwantu yi mu.

Enti, nneɛma bɛn na ɛsɛ sɛ yɛkae? (Nkrasɛm a Wɔde Kɔ Fie)

Crigler-Najjar Syndrome yɛ awosu mu tebea a ɛntaa nsi nanso ebetumi ayɛ aniberesɛm. Nea ɛho hia ne sɛ wobehu yare no ntɛm na wɔafi ayaresa a ɛfata ase.

• Sɛ ɛte sɛ nea wo ba no jaundice (kɔla kɔkɔɔ) no boro nea ɛfata so, anaasɛ ɛte sɛ nea ɛkɔ so bere tenten a, akyinnye biara nni ho sɛ kɔ oduruyɛfo nkyɛn. Mma nsɛe bere.
• Saa tebea yi ahorow abien na ɛwɔ hɔ; CN1 na emu yɛ den sen biara na ɛhwehwɛ sɛ wɔsa no ntɛm na emu yɛ den.
• Phototherapy ne ayaresa a wɔtaa de di dwuma. Wɔ CN1 fam no, mmerɛbo a wɔde bɛma obi foforo ne ano aduru a eye sen biara na ɛtra hɔ daa.
• Eyi yɛ awosu mu tebea na wontumi nsiw ano. Nanso, ɛho hia sɛ wohwehwɛ awosu ho afotu bere a woreyɛ abusua ho nhyehyɛe no.

Nea ɛho hia ne sɛ wubehu sɛ ɛnyɛ wo nkutoo. Sɛ nnuruyɛfo, abusuafo, ne awofo afoforo a wɔwɔ mma te sɛ eyi boa wo a, wubetumi ahyia saa asɛnnennen yi. Sɛ wosa wo ba no yare yiye na wofi ɔdɔ mu hwɛ no a, wubetumi aboa ma watra ase pa, sɛnea ɛbɛyɛ yiye biara.

` Crigler-Najjar Syndrome, Bilirubin, Jaundice, Mmɛn, Awosu mu yare, Kernicterus, Mfoniniyɛ, Nkokoaa a wɔawo wɔn foforo